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DSD

After childbirth, the usual and much awaited announcement from a midwife in the labor ward is - 'it's a boy' or 'it's a girl'. But there are instances when the midwife cannot determine the sex of the baby as the sex organs do not conform to defined norms of a male or a female. The baby is born with sex organs that aren't clearly male or female. There is ambiguity about the gender. The child is born with a disorder of sex development (DSD). In all probability the midwife may relate to the newborn as 'baby'. Here is a child diagnosed with DSD at birth.


An estimated 2,000 babies are born 'intersex' each year, referring to a set of over 60 different conditions that fall under the diagnosis of 'DSD' (Differences/Disorders of Sex Development). DSD occurs more often than Down syndrome or cystic fibrosis. In the last 15 years, there is more openness about DSD which has led to moving beyond the medical/biological realm. There is growing interest in gender studies as well.


From Intersex syndrome to DSD

Other terms in place of disorder of sex development are 'intersex' (between the sexes) or 'hermaphrodite' or 'pseudohermaphroditism'. International experts held a conference (International Consensus Conference on Intersex) in 2006 and have reached a consensus that the term DSD or disorder of sex development should replace all those terms.


Some people prefer to use terms like 'differences in sex development' or 'diversity of sex development'. There are three basic types of DSDs. These manifest in different ways. Understanding X and Y chromosomes can help in sorting out the types of DSDs.

Females have two X chromosomes (XX) in each cell. This is by inheriting one X chromosome from each parent. Two X chromosomes is medically written as Karyotype 46, XX. And males have an X chromosome and a Y chromosome (XY). This is by inheriting an X chromosome from the mother and a Y chromosome from the father. An XY is referred to as Karyotype 46, XY.

The Y chromosome helps make a boy as it contains the genes for the development of male organs like the testes and penis. This happens around the 6th week of fetal development. As the testes make testosterone, the penis, scrotum and urethra form. Between 7th and 8th month of the pregnancy, the testes descend into the scrotum. In the absence of the Y chromosome, the fetal tissue in a female fetus (XX) will form the female sex organs – the ovaries, uterus and the fallopian tubes.


Causes of disorder of Sex development

Through the many stages of sex development, if all is typical the fetus develops into a normal male or a female. But, if at any stage of sex development an atypical development takes place it results in a 'disorder of sex development. Like:


  • Influence of chromosome variations result in genetic disorders

  • Congenital issues (that are present at birth)

  • Genetic change that may or may not be inherited from a parent

  • Unknown exposure to certain medications or hormones during pregnancy

  • Problem during the development stage that prevents the production of enough hormones due to lack of blood flow to the ovaries or testes.

Types of DSDs


  • Sex chromosome DSD

  • 46, XY DSD

  • 46,XX DSD

Diagnostic approach to DSD

Diagnosis begins with determining the type of disorder of sex development. Physical examination, medical history of the mother's health during pregnancy and family history of any neo-natal deaths form part of the diagnosis. A biopsy of the reproductive organs is done where necessary.


  • Blood tests to check DNA and hormone levels

  • MRI to study internal structures like gonads

  • Ultrasound or direct Cystoscopy or vaginoscopy to take images of internal gonads.

  • MRI or CT, and a retrograde genitogram to assess the Müllerian structures and the kidneys.

  • Genital Urethrogram to look at the urethra and vagina, if present

  • Chromosomal analysis to determine the genetic sex (46 XX or 46 XY)

  • SRY Gene evaluation: An essential protein for sex termination in human males found on the Y chromosome. Also known as sex-determining region on Y, sex determining region protein, SRY_HUMAN, TDF, TDY or testis determining factor.

  • Endoscopy, laparoscopy and gonadal biopsy

  • Electrolyte tests such as sodium, potassium and glucose levels

  • Fertility test

  • Test to determine size and potential for growth of the penis in an undersized male pseudohermaphrodite

  • Test to analyze the ability of an internal reproductive organ to produce sex hormones for the gender chosen

  • Test to check possibility of future health conditions that may develop in the original reproductive organs

  • Test to determine the action of male or female hormones on the fetal brain.

Treatment of DSD

Treatment options are based on specific diagnosis and issues involved. Not restricted to medical treatment, it involves psychological support as well. Reconstructing external genitalia or removing internal genitalia are surgical procedures. In some cases, more than one surgery is needed.


  • Diagnostic evaluation, including examination, blood tests such as chromosome analysis and other genetic testing, and imaging (X-ray, ultrasound, MRI)

  • Psychosocial support

  • Genetic counseling

  • Medical management, including hormone treatment (hormone replacement and hormone suppression)

  • Surgical procedures when indicated

Surgical procedures for DSD

Not every DSD requires surgery. Medications may also be used to treat certain DSDs. Experts recommend waiting till adolescence to understand the individual's preference for identity. In children, surgery is necessary:


  • For a child born without an opening for urination and to remove risks of complication, a surgery for opening is essential.

  • A surgery to obtain a sample of the gonad to determine whether ovarian and/or testicular tissue, a biopsy and surgery is required.

  • A surgery to reduce the size of a large clitoris or surgery to remove a gonad that is at risk to develop cancer is important.

Feminizing surgery: Going by 'Chicago Consensus', Feminizing surgery should only be considered in cases of severe virilisation. Also, the emphasis should be on functional outcome rather than cosmetic appearance. An ongoing debate on Feminizing Surgery is the timing of the surgery. A section believes in performing early feminizing surgery. Yet another section advocate feminizing surgery in adolescence as the patient is involved in discussions and decision-making.


  • Clitoroplasty: Reduce the size of the clitoris

  • Labioplasty: surgical modification of the labia

  • Vaginoplasty: to create a vagina or enlarge an existing one.

Tags: #DSD
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Collection of Pages - Last revised Date: March 28, 2024